DNAH1

DNAH1
Identifiers
Aliases	DNAH1, DNAHC1, HDHC7, HL-11, HL11, HSRF-1, XLHSRF-1, dynein axonemal heavy chain 1, SPGF18, CILD37
External IDs	OMIM: 603332; MGI: 107721; GeneCards: DNAH1
Gene location (Human)
Chr.	Chromosome 3 (human)
End	52,400,492 bp
Gene location (Mouse)
Chr.	Chromosome 14 (mouse)
End	31,045,853 bp
RNA expression pattern
	Top expressed in
	right uterine tube; ; bronchial epithelial cell; ; granulocyte; ; left testis; ; right testis; ; olfactory zone of nasal mucosa; ; right lobe of liver; ; right frontal lobe; ; bone marrow cell; ; tendon of biceps brachii;
	Top expressed in
	spermatocyte; ; arcuate nucleus; ; seminiferous tubule; ; spermatid; ; supraoptic nucleus; ; median eminence; ; paraventricular nucleus of hypothalamus; ; ventromedial nucleus; ; vas deferens; ; dorsomedial hypothalamic nucleus;
	More reference expression data
	n/a
Gene ontology
Molecular function	microtubule motor activity; nucleotide binding; ATPase activity; cytoskeletal motor activity; ATP binding; minus-end-directed microtubule motor activity; dynein light chain binding; dynein intermediate chain binding; dynein light intermediate chain binding;
Cellular component	cytoplasm; inner dynein arm; cell projection; cilium; axonemal dynein complex; microtubule; cytoskeleton; dynein complex; axoneme; motile cilium; sperm flagellum; extracellular region;
Biological process	microtubule-based movement; inner dynein arm assembly; cilium-dependent cell motility; cilium movement; sperm axoneme assembly; epithelial cilium movement involved in extracellular fluid movement; flagellated sperm motility; cilium movement involved in cell motility;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	25981
	110084
	ENSG00000114841
	ENSMUSG00000019027
	Q9P2D7
	E9Q8T7
	NM_015512
	NM_001033668
	NP_056327
	NP_001028840
	Wikidata
View/Edit Human	View/Edit Mouse

Dynein axonemal heavy chain 1 is a protein that in humans is encoded by the DNAH1 gene.

Function

This gene encodes an inner dynein arm heavy chain that provides structural support between the radial spokes and the outer doublet of the sperm tail. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and multiple morphological anomalies of the flagella that result in asthenozoospermia and male infertility. Mice with a homozygous knockout of the orthologous gene are viable but have reduced sperm motility and are infertile. [provided by RefSeq, Feb 2017].

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000114841 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000019027 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: Dynein axonemal heavy chain 1". Retrieved 2017-11-06.

Zuccarello D, Ferlin A, Cazzadore C, Pepe A, Garolla A, Moretti A, Cordeschi G, Francavilla S, Foresta C (2008). "Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia". Hum. Reprod. 23 (8): 1957–62. doi:10.1093/humrep/den193. hdl:11697/5382. PMID 18492703.
Lehmann M, Milev MP, Abrahamyan L, Yao XJ, Pante N, Mouland AJ (2009). "Intracellular transport of human immunodeficiency virus type 1 genomic RNA and viral production are dependent on dynein motor function and late endosome positioning". J. Biol. Chem. 284 (21): 14572–85. doi:10.1074/jbc.M808531200. PMC 2682905. PMID 19286658.
Skånland SS, Wälchli S, Brech A, Sandvig K (2009). "SNX4 in complex with clathrin and dynein: implications for endosome movement". PLOS ONE. 4 (6) e5935. Bibcode:2009PLoSO...4.5935S. doi:10.1371/journal.pone.0005935. PMC 2691479. PMID 19529763.
Ben Khelifa M, Coutton C, Zouari R, Karaouzène T, Rendu J, Bidart M, Yassine S, Pierre V, Delaroche J, Hennebicq S, Grunwald D, Escalier D, Pernet-Gallay K, Jouk PS, Thierry-Mieg N, Touré A, Arnoult C, Ray PF (2014). "Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella". Am. J. Hum. Genet. 94 (1): 95–104. doi:10.1016/j.ajhg.2013.11.017. PMC 3882734. PMID 24360805.
Imtiaz F, Allam R, Ramzan K, Al-Sayed M (2015). "Variation in DNAH1 may contribute to primary ciliary dyskinesia". BMC Med. Genet. 16: 14. doi:10.1186/s12881-015-0162-5. PMC 4422061. PMID 25927852.
Wang X, Jin H, Han F, Cui Y, Chen J, Yang C, Zhu P, Wang W, Jiao G, Wang W, Hao C, Gao Z (2017). "Homozygous DNAH1 frameshift mutation causes multiple morphological anomalies of the sperm flagella in Chinese". Clin. Genet. 91 (2): 313–321. doi:10.1111/cge.12857. PMID 27573432.

This article on a gene on human chromosome 3 is a stub. You can help Wikipedia by adding missing information.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000114841 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000019027 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Dynein axonemal heavy chain 1". Retrieved 2017-11-06.

DNAH1

Function

References

Further reading